Potential After Effects Alzheimers Genetic Testing To Consider
Imagine the scrutiny that can occur when you are found to be “at higher risk.” If you have a little fender-bender, as many of us have; if you leave a burner on, as many of us have; if you pay a bill a few days late, as many of us have and how people may begin to erode your rights as soon as these happen.
It is no surprise that many people with dementia stay “in the closet”and, unfortunately, our media and even our medical and advocacy groups often ramp up the stigma and fear to sell more newspapers or raise more funds.
I think the best way to balance the pros and cons is to move to a society where we can help each person to know that it is possible to live fully with a;diagnosis of dementia, irrespective of current or future medications, and to create communities that respect the rights of people to be heard and included to the greatest extent possible.
What Should I Do If My Parent Is Diagnosed With Alzheimers Or Dementia
First and foremost, dont panic. Its not your diagnosis. Get tested so you have factual data. After getting a test you can act accordingly. Sometimes people get diagnosed with the ApoE gene and never get diagnosed with Alzheimers. Taking preventative measures regarding diet,exercise, and mentally stimulating activities puts them in far better condition than many who dont even have the gene.
Although there is no known way to prevent Alzheimers, and while we cant change our genetic profile, we can change our lifestyle to reduce our risk.
Genetic Testing Not Helpful
When a relative is diagnosed with dementia later in life, family members often wonder if they should be tested for the “Alzheimer’s gene.” The short answer is no. “It can be a quick no or a long no, with more explanation, but the answer is nearly always no,” Dr. Marshall says. “It’s not going to be helpful, since it won’t tell you whether you will develop the disease. It will only tell you if you are at a greater or lower risk.”
For Alzheimer’s disease that begins later in lifethe vast majority of casesa gene called apolipoprotein E is associated with greater risk for dementia. If you inherit one copy of APOE4, your risk triples. If you have two copies, your risk is 10 to 15 times higher .
But having APOE4 does not mean you will definitely develop dementia. Among people who age normally into their 70s, about 25% still have one or more copies of the risk gene. Nor does the absence of APOE4 protect you: about 35% of people with Alzheimer’s don’t have one of the risk genes.
This means that if genetic testing reveals that you have one or more copies of APOE4, it will not tell you what you really want to know: will you definitely get Alzheimer’s diseaseor will you not? Knowing that you have the risk gene could instill fear and negatively influence your life decisions.
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Should You Be Tested For The Alzheimers Gene
Anyone who has a family member with Alzheimers disease worries: Does Alzheimers run in my family? Will I also go on to develop the disease?
Concerns about Alzheimers may become particularly pressing in older people who may be experiencing memory issues of their own. Genetic testing for Alzheimers is available through consumer testing companies like 23andMe. For one to two hundred dollars, you can send in a test swab of saliva or a cheek swab or blood specimen and find out if you carry a gene that increases your risk of developing Alzheimers.
But just because you can get tested, doesnt mean you should get tested. Because while a direct-to-consumer genetic test can inform you on a risk level, it cannot determine for certain whether you will develop Alzheimers disease. While some forms of Alzheimers are inherited , particularly early-onset forms of the disease that crop up as early as a persons 30s or 40s, most cases of Alzheimers arise in older adults and are thought to be influenced not just by a single gene mutation like in FADs, but rather by several genes and also by lifestyle factors like diet and exercise.
One gene in particular has received a lot of attention: the APOE gene, which codes for a protein called apolipoprotein E that affects how cholesterol and other fats are processed in the body. Each of us carries two copies of the APOE gene, one inherited from our mother, and the other from our father.
So should you get tested for APOE-E4?
Many People Are Simply Unsure If They Should Take A Dna Test To Determine If They Are At Risk Of Developing Alzheimers Disease
The only person who can make the best choice when it comes to taking a home DNA test for Alzheimers is you. For many people, theres a lot of stress, worry, and fear associated with taking a home DNA test specifically to learn about their risk of Alzheimers disease.
For this reason, the Alzheimers Society says that when having a DNA test for Alzheimers, its vital that proper genetic counseling is provided to ensure it is the correct decision for your medical health and well-being.
Still, at home DNA tests are an inexpensive way to calm your fears or encourage you to make more informed lifestyle choices. In fact, many genetic counselors say that theres nothing wrong with taking a home DNA test, so long as you loop your doctor into discussions about why youre taking the test, and what information youre hoping to learn.
In this way, your health care provider can help you interpret the test results and also provide you with resources for improving your health, regardless of what the DNA test results suggest.
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What Does The Test Result Mean
People who have symptoms of;Alzheimer disease and have one or more APOE e4 copies are more likely to have AD. However, it is not diagnostic of AD and should not be used to screen asymptomatic people or their family members. Many individuals who have APOE e4 alleles will never develop AD. Even in symptomatic people, only about 60% of those with late onset AD will have APOE e4 alleles.
Although APOE genotyping may be used clinically by Alzheimer experts, it can only provide additional information about a person with dementia. A definite diagnosis of Alzheimer disease can only be made by examining a persons brain tissue after their death.
The Tough Decision On Whether Or Not To Be Tested For The Alzheimers Gene
The latest version of 23andMe allows you to choose whether youd like to know if you carry certain genetic markers associated with late-onset Alzheimers and Parkinsons disease.
My husband, mother-in-law, and a close friend of mine all got 23andMe over the holidays, and each one opted in for both of these health risk reports.
The Alzheimers test in particular looks for the number of APOE-e4 gene variations, called alleles, that a person has.
Scott Weissman, a certified genetic counselor with Chicago Genetic Consultants, told me that having copies of the APOE-e4 allele doesnt necessarily mean youll get Alzheimers, but your risk for developing the disease increases with the more copies you have.
But the reason for this association isnt entirely clear and is currently being studied by scientists.
They dont specifically know is whats causing the disease, Weissman said. Or if it is, they dont understand the mechanism.
Everyone close to me wanted to know about their health risk for Parkinsons disease and Alzheimers, but I never reached a state of mind where I was comfortable finding out.
Weissman said theres no hard evidence showing that lifestyle or dietary modifications in people with these markers can actually lower ones likelihood of developing the disease.
Because there isnt much that can be done to lower ones risk if they have APOE-e4 markers, I was even less inclined to opt in.
I opted out of both tests.
Common Feelings About Testing
Not everyone who has genetic testing or screening will have the same reaction. People within a family may have very different feelings.
- Some people may worry about what the test result may show, or how they will react to the test result.
- Others may feel relief that they were able to inform themselves. The results of genetic testing may help these people decide what to do next.
- People who are at risk of having a child with a genetic condition may feel anxious or overwhelmed at the thought of passing it onto the next generation.
- Others may be comfortable with the risks but want to learn about their options.
- People undergoing fertility treatments or prenatal testing may feel stress because of the risk of the procedures, the decisions that they may face, the future health of their baby, financial strain, and relationship pressures.
Pros And Cons Of Alzheimer’s Gene Test
“There is still a lot to explore in this,” Green says. “The bottom line is in conventional medical centers, ApoE is still an experimental test. We are not advocating using it clinically, and we will not use clinically at the present time.”
But that doesn’t mean people shouldn’t get the test — as long as they understand what they are doing, says Jeffery M. Vance, MD, PhD, director of the Center for Genomic Medicine at the University of Miami Institute for Human Genetics.
“It does not surprise me that with proper medical consultation, patients took the information in an appropriate fashion,” Vance tells WebMD. “As a doctor, you provide them the pros and cons — and that includes all the legal concerns, the medical concerns, and their concerns about the impact of the test on others in their family, their kids. Then let them make the decision.”
Perhaps the biggest argument against ApoE testing is that there’s no treatment to prevent or delay Alzheimer’s disease. That may soon change.
“In Alzheimer’s disease, we are talking about a disease where treatments are expected in the near future,” Green says. “Once there are treatments, the next clinical question is whether they delay Alzheimer’s onset in at-risk people. At that point, it will be important to know who is at higher risk.”
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Genetic Unicorns Defy Their Own Dna And Could Hint At New Treatments
The idea of telling consumers by mail that they have an elevated risk of Alzheimers based on a genetic variant in a gene known as APOE concerned some physicians and researchers. Rudolph Tanzi, a neurology professor at Harvard Medical School, said consumers will for sure need genetic counseling along with the test results.
The relationship between Alzheimers disease and the APOE variant is complex and not fully understood, said Dr. Mary Ganguli, a professor of geriatric psychiatry at the University of Pittsburgh.; For one thing, she said, the association is weaker in African-Americans than in whites. For another, the risk fades with age; if you make it beyond age 80 without developing Alzheimers, youre no longer at elevated risk, even if you have the variant, she said.
How is someone who orders the test at home and gets this result going to know all this? Ganguli asked. Do most of their doctors know?
23andMe, like several other companies, has been providing customers with reports on their genetic ancestry and some general health information, like whether theyre lactose intolerant or prone to weight gain. The FDAs move on Thursday greatly widens the market for the company.
Just as significant: The FDA indicated that it will ease the way for 23andMe to sell additional disease risk tests, without extensive regulatory review. Other companies that use a similar process for genetic analysis may also be able to expedite their path to market.
Is There Anything You Can Do
Unlike glaucoma, diabetes, or some cancers, there is no early detection screening for Alzheimerâs disease. Thereâs no definitive way to prevent it either.
âThereâs just nothing practical or actionable to do with this information,â Weissman says. âItâs not going to change anyoneâs medical management.â
The lifestyle recommendations that might help lower risk for Alzheimerâs, Weissman explains, are the things that doctors encourage their patients to do anyway. Research shows that a healthy diet, plenty of exercise, enough sleep, fewer calories per day or periodic fasting, and brain stimulation can all improve your odds of living out your life dementia-free.
But, 23andMeâs Wu argues, âWe know these are standard recommendations for staying healthy, but we also know that most people donât follow them. Genetic information can be the triggering event that gets people motivated.â
It certainly motivated Julie Gregory of Long Beach, IN, to overhaul her lifestyle. Like Tyrone, she took a genetic test for reasons unrelated to her Alzheimerâs risk. When her 23andMe results revealed that she had two copies of APOEe4, she thought of those âsenior momentsâ sheâd had since she was 49. Sheâd forget the names of people sheâd known for 20 years when she ran into them at the grocery store. Her test results filled her with dread. Were the wheels already in motion on the road to Alzheimerâs disease?
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Scientists Have Identified Genetic Mutations That Cause Early
While researchers have found genetic risk factors for late-onset Alzheimers, they have, on the other hand, identified rare genetic mutations that cause early-onset Alzheimers, which affects people younger than the age of 65.;
Langbaum said people who carry hereditary genetic mutations in one of three genes PSEN1, PSEN2 and APP nearly always develop the disease. They account for less than 1 percent of all people with Alzheimers.;
She noted that the decision to order genetic testing for a genetic mutation that causes early-onset Alzheimers is typically made between the patient, clinician and in many cases, family members.;
Meanwhile, there seems to be certain genetic factors that may be protective against Alzheimers. Scientists from the Banner Alzheimers Institute and colleagues found that an extremely rare variant of ApoE, known as the Christchurch mutation, appeared to protect a Colombian woman from the ravages of the disease.;
The woman, who carried the PSEN1 mutation and two copies of the Christchurch mutation, had normal cognitive abilities until her 70s when she began to develop memory decline. Even though she had high levels of beta-amyloid plaques in her brain, there were very limited atrophy and tau pathology.
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Alzheimers / Dementia Testing Alternatives
Despite the lack of an FDA-approved blood test, families who suspect their loved one may have Alzheimers have a well-trod, if meandering, path to a diagnosis. To begin the process, there are online tests for Alzheimers that can be downloaded, printed, completed and taken to your doctor, and even some interactive tests that might provide immediate results. However, these online tests do not actually test for Alzheimers or dementia. Instead, they offer families answers to these questions: Are my concerns about my loved one justified?Is this just normal aging or is there something more going on? Officially, the tests are looking for Mild Cognitive Impairment . These tests are not definitive, but they can help a family figure out what their next step should be.
If a doctor suspects a patient may have Alzheimers, there are more definitive approaches. Brain scans and tests on extracted spinal fluid when coupled with multiple physicians consultations can make a diagnosis of Alzheimers with upwards of 90 percent accuracy. Families should expect their loved one to be evaluated by a neurologist, a psychiatrist, and very likely a psychologist as well. Since Alzheimers is so common among the elderly, a diagnosis is less about finding a condition which fits and more about eliminating other possibilities.
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What To Do If Someone In Your Family Is Diagnosed With Alzheimer’s
Contact the Alzheimer’s Association . Find out about resources available to help you and your family. State and county agencies may also be able to help.
Plan for the future. This includes legally designating someone to make health care and financial decisions for the affected person when he or she can’t.
Investigate long-term care options. Nursing care is expensive, and finding a good place can take time. Start early.
Take care of physical health. People with dementia who live a healthy lifestyle tend to progress more slowly to the later stages.
Steer away from genetic testing. Even if you have the APOE Alzheimer’s risk gene, it usually doesn’t mean you will develop dementia later in life.
If Youre Considering Utilizing A Dna Test You May Feel A Bit Overwhelmed By All The Options Available To Purchase Online Or To Have Administered Through Your Doctors Office
Heres the difference between a handful of common DNA tests that you may have seen commercials for or encountered online.
Ancestry DNA tests: This kind of DNA test is the kind you may have seen ads for, where it says submitting a DNA sample can help you find out more about your family history. Ancestry DNA tests are becoming more and more popular around the globe, and they often come with additional features such as family tree databases to help you compile your genealogy.
And, if you choose to participate, these DNA tests can also compare your DNA to that of people who have also submitted a test to identify potential relatives, which can work in the benefit of people who are adopted or dont know much of their family. Popular ancestry DNA tests include AncestryDNA, Family Tree DNA, and MyHeritage DNA, though more and more companies are offering this kind of DNA testing as time goes on.
At-Home Medical DNA tests: As more people want to know about their genetics, DNA testing companies have developed a variety of DNA test kits that can clue you on potential personal health risks. One of the biggest draws of these tests is that they can be taken within the privacy of your own home and theyre affordable which means that the information you gain from these tests can help you understand your personal health situation without the expense of a doctor-ordered DNA test.
If youre a woman, you wont have any Y-DNA for a DNA test kit to reveal .
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